Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis.
OBJECTIVE
To investigate the role of the HS1,2 enhancer polymorphisms as a new candidate marker for rheumatoid arthritis (RA) and to define the possible association with autoantibody positivity and clinical outcome.


METHODS
Genomic DNA was obtained from two cohorts of patients with RA (100 with early RA (ERA) and 114 with longstanding RA (LSRA)) and from 248 gender-matched controls from the same geographical area. Clinical and immunological characteristics were recorded for all the patients.


RESULTS
The percentage of the 2/2 genotype was higher in patients with ERA (27.0%), and in patients with LSRA (34.2%), than in controls (14.9%) (ERA: OR = 2.11 (95% CI 1.20 to 3.70) vs controls; LSRA: OR = 2.96 (95% CI 1.76 to 5.00) vs controls). A lower representation of allele *3 was present in patients with ERA (2.0%) than in controls (6.0%; OR = 0.32 (95% CI 0.11 to 0.91)). No significant associations were found between polymorphisms and autoantibodies positivity.


CONCLUSIONS
The HS1,2A allele *2 associates with early and longstanding RA.
Tolusso
B
B
Division of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
Frezza
D
D
Mattioli
C
C
Fedele
A L
AL
Bosello
S
S
Faustini
F
F
Peluso
G
G
Giambra
V
V
Pietrapertosa
D
D
Morelli
A
A
Gremese
E
E
De Santis
M
M
Ferraccioli
G F
GF
D000328:Adult; D000368:Aged; D000483:Alleles; D018501:Antirheumatic Agents / Q000627:therapeutic use; D001172:Arthritis, Rheumatoid / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D001323:Autoantibodies / Q000097:blood; D015331:Cohort Studies; D004742:Enhancer Elements, Genetic; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012045:Regulatory Sequences, Nucleic Acid; D012217:Rheumatoid Factor / Q000097:blood; D012720:Severity of Illness Index; D016896:Treatment Outcome
D018501:Antirheumatic Agents; D001323:Autoantibodies; D005819:Genetic Markers; C530726:HS1,2-A enhancer protein, human; D007143:Immunoglobulin Heavy Chains; D012217:Rheumatoid Factor